日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study

捷克共和国青少年起病型糖尿病患病率高:一项基于全国登记数据的25年研究

Dusatkova, Petra; Pavlikova, Marketa; Cermakova, Michaela; Vesela, Klara; Kolarova, Katerina; Elblova, Lenka; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka

A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry

SWEET注册研究中单基因糖尿病青少年患者的临床特征和治疗的全球视角

Deng, Lily; Lanzinger, Stefanie; Casteels, Kristina; Cavallo, Fred; De Sanctis, Luisa; Fitas, Ana Laura; Huang, Carol; Kim, Jaehyun; Patouni, Konstantina; Pruhova, Stepanka; Taplin, Craig E; Tauschmann, Martin; Krishnamurthy, Mansa

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort

现实生活中的努南综合征谱系疾病:单国多中心队列研究中基因定义的患者特征和对生长激素治疗的反应

Jirova, Barbora; Najdekova, Maria; Cerna, Jana; Dusatkova, Petra; Holotova, Kristina; Kolouskova, Stanislava; Kotvalova, Ivana; Magnova, Olga; Modrak, Martin; Novotna, Dana; Obermannova, Barbora; Pavlicek, Jan; Plachy, Lukas; Pomahacova, Renata; Pruhova, Stepanka; Rezabkova, Jitka; Strnadel, Jiri; Snajderova, Marta; Sumnik, Zdenek; Zapletalova, Jirina; Lebl, Jan

Short-term low-carbohydrate diet decreases body weight and fat mass but not muscle strength in children and young people with type 1 diabetes

短期低碳水化合物饮食可降低1型糖尿病儿童和青少年的体重和脂肪量,但不会降低肌肉力量。

Neuman, V; Maratova, K; Plachy, L; Drnkova, L; Pruhova, S; Kolouskova, S; Obermannova, B; Amaratunga, S A; Kulich, M; Havlik, J; Cinek, O; Sumnik, Z

Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases

细胞遗传学异常是非家族性高个子儿童的主要遗传改变:与家族性病例的比较研究

Gregorova, Katerina; Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Martinkova, Julia; Drabova, Jana; Neuman, Vit; Kolouskova, Stanislava; Snajderova, Marta; Obermannova, Barbora; Lebl, Jan; Sumnik, Zdenek; Pruhova, Stepanka

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq

伊拉克库尔德斯坦地区近亲结婚人群中儿童糖尿病亚型:一项单中心队列研究

Amaratunga, Shenali A; Hussein Tayeb, Tara; Muhamad Sediq, Rozhan N; Hama Salih, Fareda K; Dusatkova, Petra; Wakeling, Matthew N; De Franco, Elisa; Pruhova, Stepanka; Lebl, Jan

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes

HNF-1A介导的HNF4A基因调控及启动子驱动的HNF4A-MODY糖尿病的分子机制

Kind, Laura; Molnes, Janne; Tjora, Erling; Raasakka, Arne; Myllykoski, Matti; Colclough, Kevin; Saint-Martin, Cécile; Adelfalk, Caroline; Dusatkova, Petra; Pruhova, Stepanka; Valtonen-André, Camilla; Bellanné-Chantelot, Christine; Arnesen, Thomas; Kursula, Petri; Njølstad, Pål Rasmus

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

携带 HNF1B 变异和 17q12 染色体微缺失患者的肾脏和肾外表型

Buffin-Meyer, Bénédicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; König, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Véronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Kónya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Tönshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; van Eerde, Albertien M; Schanstra, Joost P; Decramer, Stéphane

Monogenic causes of familial short stature

家族性矮小症的单基因病因

Plachy, Lukas; Dusatkova, Petra; Amaratunga, Shenali Anne; Neuman, Vit; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

垂体激素联合缺乏症的病因:GNAO1作为一种新的候选基因

Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Amaratunga, Shenali Anne; Zemkova, Dana; Neuman, Vit; Kolouskova, Stanislava; Obermannova, Barbora; Snajderova, Marta; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka